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American Journal of Human Genetics
|
January 9, 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients
Julie Vogt, Benjamin J Harrison, Hayley Spearman, et al.
Molecular Vision
|
May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
Esther Meyer, Fatimah Rahman, Jessica Owens, et al.
European Journal of Medical Genetics
|
November 13, 2012
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance
Diana M Walsh, Stavit A Shalev, Michael A Simpson, et al.
Platelets
|
October 27, 2018
Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis
Rashid Al Ghaithi, Jun Mori, Zoltan Nagy, et al.
Journal of Thrombosis and Haemostasis : JTH
|
November 10, 2021
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding
Rachel J Stapley, Natalie S Poulter, Abdullah O Khan, et al.
Immunobiology
|
July 24, 2017
Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication
Rak-Kyun Seong, Seong-Wook Seo, Ji-Ae Kim, et al.
Blood
|
May 3, 2002
Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma
Michael S Wiesener, Melchior Seyfarth, Christina Warnecke, et al.
Platelets
|
April 24, 2020
An adaptable analysis workflow for characterization of platelet spreading and morphology
Jeremy A Pike, Victoria A Simms, Christopher W Smith, et al.
Platelets
|
December 7, 2018
Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding
Gillian C Lowe, Roksana Fickowska, Rashid Al Ghaithi, et al.
Brain Communications
|
February 26, 2021
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>
Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 88) with videos related to
Sort By:
Page
of 9
American Journal of Human Genetics
|
January 9, 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients
Julie Vogt, Benjamin J Harrison, Hayley Spearman, et al.
Molecular Vision
|
May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
Esther Meyer, Fatimah Rahman, Jessica Owens, et al.
European Journal of Medical Genetics
|
November 13, 2012
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance
Diana M Walsh, Stavit A Shalev, Michael A Simpson, et al.
Platelets
|
October 27, 2018
Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis
Rashid Al Ghaithi, Jun Mori, Zoltan Nagy, et al.
Journal of Thrombosis and Haemostasis : JTH
|
November 10, 2021
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding
Rachel J Stapley, Natalie S Poulter, Abdullah O Khan, et al.
Immunobiology
|
July 24, 2017
Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication
Rak-Kyun Seong, Seong-Wook Seo, Ji-Ae Kim, et al.
Blood
|
May 3, 2002
Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma
Michael S Wiesener, Melchior Seyfarth, Christina Warnecke, et al.
Platelets
|
April 24, 2020
An adaptable analysis workflow for characterization of platelet spreading and morphology
Jeremy A Pike, Victoria A Simms, Christopher W Smith, et al.
Platelets
|
December 7, 2018
Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding
Gillian C Lowe, Roksana Fickowska, Rashid Al Ghaithi, et al.
Brain Communications
|
February 26, 2021
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>
Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, et al.
Page
of 9